Associated Papers
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A et al.
Human Genomics, 2024
39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS3_UniquePointVariants
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
28593992 (PubMed )
Supplement: ncomms15786-s1.pdf
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
Further cases of "neighbor" mutations in mucopolysaccharidosis type II.
Schwartz IV et al.
American Journal of Medical Genetics. Part A, 2006
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).
Chang JH et al.
Human Genetics, 2005
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
Ricci V et al.
American Journal of Medical Genetics. Part A, 2003
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